ClinVar Miner

List of variants reported as not provided for Stickler syndrome

Included ClinVar conditions (22):

Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Czech dysplasia, metatarsal type; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Autosomal dominant rhegmatogenous retinal detachment
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, IIa 6
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	rs150669855	0.00064
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	rs375476174	0.00006
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	rs749003514	0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	rs1283924469	0.00004
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)	rs1186241291	0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	rs886043832	0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)	rs1938732355	0.00001
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser)	rs148751593	0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	rs372419698	0.00001
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	rs121912885
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)	rs121912931
NM_001852.4(COL9A2):c.843_846+4del	rs606231376
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)

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